MPV17 (mitochondrial inner membrane protein MPV17) - Rat Genome Database

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Gene: MPV17 (mitochondrial inner membrane protein MPV17) Homo sapiens
Analyze
Symbol: MPV17
Name: mitochondrial inner membrane protein MPV17
RGD ID: 1353525
HGNC Page HGNC
Description: Enables channel activity. Involved in homeostatic process; mitochondrial genome maintenance; and regulation of mitochondrial DNA metabolic process. Located in mitochondrial inner membrane. Implicated in Charcot-Marie-Tooth disease type 2EE and mitochondrial DNA depletion syndrome 6.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT2EE; mpv17 transgene, murine homolog, glomerulosclerosis; Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome; MTDPS6; SYM1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl227,309,492 - 27,325,680 (-)EnsemblGRCh38hg38GRCh38
GRCh38227,309,492 - 27,323,097 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37227,532,360 - 27,545,964 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36227,385,864 - 27,399,473 (-)NCBINCBI36hg18NCBI36
Build 34227,444,012 - 27,457,082NCBI
Celera227,379,464 - 27,393,076 (-)NCBI
Cytogenetic Map2p23.3NCBI
HuRef227,274,582 - 27,288,152 (-)NCBIHuRef
CHM1_1227,462,306 - 27,475,919 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7564095   PMID:7957077   PMID:8281143   PMID:8427063   PMID:12471025   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15815621   PMID:16582907   PMID:16582910   PMID:16631601  
PMID:16909392   PMID:17694548   PMID:18261905   PMID:18329934   PMID:18695062   PMID:19012992   PMID:19520594   PMID:20074988   PMID:20178365   PMID:20614188   PMID:20843780   PMID:20877624  
PMID:21873635   PMID:22306510   PMID:22593919   PMID:22658674   PMID:22939629   PMID:23714749   PMID:23829229   PMID:25861990   PMID:26437932   PMID:26760297   PMID:26871637   PMID:27499296  
PMID:28209105   PMID:28380382   PMID:28673863   PMID:28986522   PMID:29318572   PMID:29517884   PMID:30298599   PMID:30385507   PMID:32155188   PMID:34116124  


Genomics

Comparative Map Data
MPV17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl227,309,492 - 27,325,680 (-)EnsemblGRCh38hg38GRCh38
GRCh38227,309,492 - 27,323,097 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37227,532,360 - 27,545,964 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36227,385,864 - 27,399,473 (-)NCBINCBI36hg18NCBI36
Build 34227,444,012 - 27,457,082NCBI
Celera227,379,464 - 27,393,076 (-)NCBI
Cytogenetic Map2p23.3NCBI
HuRef227,274,582 - 27,288,152 (-)NCBIHuRef
CHM1_1227,462,306 - 27,475,919 (-)NCBICHM1_1
Mpv17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39531,298,007 - 31,311,595 (-)NCBIGRCm39mm39
GRCm39 Ensembl531,297,998 - 31,311,595 (-)Ensembl
GRCm38531,140,663 - 31,154,251 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl531,140,654 - 31,154,251 (-)EnsemblGRCm38mm10GRCm38
MGSCv37531,443,033 - 31,456,615 (-)NCBIGRCm37mm9NCBIm37
MGSCv36531,417,529 - 31,430,812 (-)NCBImm8
Celera528,619,571 - 28,633,245 (-)NCBICelera
Cytogenetic Map5B1NCBI
Mpv17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2625,221,668 - 25,236,241 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl625,222,896 - 25,236,244 (+)Ensembl
Rnor_6.0626,585,713 - 26,600,265 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl626,587,443 - 26,599,511 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0636,403,896 - 36,416,645 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4625,200,452 - 25,214,909 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1101,655,564 - 1,672,677 (+)NCBI
Celera624,714,225 - 24,727,365 (+)NCBICelera
Cytogenetic Map6q14NCBI
Mpv17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554699,279,540 - 9,291,954 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554699,279,540 - 9,292,012 (-)NCBIChiLan1.0ChiLan1.0
MPV17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A27,399,258 - 27,412,747 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A27,399,258 - 27,414,090 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A27,311,551 - 27,325,249 (-)NCBIMhudiblu_PPA_v0panPan3
MPV17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11721,280,523 - 21,290,967 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1721,281,361 - 21,290,339 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1721,172,324 - 21,182,712 (-)NCBI
ROS_Cfam_1.01721,601,802 - 21,612,194 (-)NCBI
UMICH_Zoey_3.11721,288,497 - 21,298,885 (-)NCBI
UNSW_CanFamBas_1.01721,297,995 - 21,308,610 (-)NCBI
UU_Cfam_GSD_1.01721,346,222 - 21,356,615 (-)NCBI
Mpv17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629265,580,429 - 65,593,085 (-)NCBI
SpeTri2.0NW_0049364935,246,803 - 5,258,147 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MPV17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3111,821,690 - 111,835,663 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13111,823,075 - 111,833,929 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MPV17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11480,289,285 - 80,302,838 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604531,849,129 - 31,863,229 (-)NCBIVero_WHO_p1.0
Mpv17
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247389,395,315 - 9,411,904 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH70909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,532,585 - 27,532,728UniSTSGRCh37
Build 36227,386,089 - 27,386,232RGDNCBI36
Celera227,379,689 - 27,379,832RGD
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p23-p21UniSTS
HuRef227,274,807 - 27,274,950UniSTS
GeneMap99-GB4 RH Map297.89UniSTS
NCBI RH Map2175.5UniSTS
WI-18702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,532,387 - 27,532,511UniSTSGRCh37
Build 36227,385,891 - 27,386,015RGDNCBI36
Celera227,379,491 - 27,379,615RGD
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p23-p21UniSTS
HuRef227,274,609 - 27,274,733UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
Whitehead-RH Map2157.0UniSTS
STS-X76538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,532,655 - 27,532,792UniSTSGRCh37
Build 36227,386,159 - 27,386,296RGDNCBI36
Celera227,379,759 - 27,379,896RGD
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p23-p21UniSTS
HuRef227,274,877 - 27,275,014UniSTS
G19419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,532,410 - 27,532,504UniSTSGRCh37
Build 36227,385,914 - 27,386,008RGDNCBI36
Celera227,379,514 - 27,379,608RGD
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p23-p21UniSTS
HuRef227,274,632 - 27,274,726UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
MARC_16687-16688:1017861800:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,534,779 - 27,535,624UniSTSGRCh37
Celera227,381,883 - 27,382,729UniSTS
HuRef227,277,001 - 27,277,847UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4879
Count of miRNA genes:986
Interacting mature miRNAs:1215
Transcripts:ENST00000233545, ENST00000357186, ENST00000380044, ENST00000399052, ENST00000402310, ENST00000402722, ENST00000403262, ENST00000405076, ENST00000405983, ENST00000415514, ENST00000426513, ENST00000428910, ENST00000430991, ENST00000435114, ENST00000475085, ENST00000481575, ENST00000486898, ENST00000489478, ENST00000492879, ENST00000494436, ENST00000495429, ENST00000497981
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2244 2178 1450 349 1373 194 3600 1248 3465 388 1449 1604 172 1 1199 2036 5 2
Low 195 813 276 275 578 271 756 949 269 31 11 9 3 5 752 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG714998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI602840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ868548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000233545   ⟹   ENSP00000233545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,492 - 27,322,564 (-)Ensembl
RefSeq Acc Id: ENST00000357186   ⟹   ENSP00000349713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,494 - 27,325,680 (-)Ensembl
RefSeq Acc Id: ENST00000380044   ⟹   ENSP00000369383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,492 - 27,323,097 (-)Ensembl
RefSeq Acc Id: ENST00000399052   ⟹   ENSP00000382006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,315,716 - 27,323,097 (-)Ensembl
RefSeq Acc Id: ENST00000402310   ⟹   ENSP00000383955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,492 - 27,323,054 (-)Ensembl
RefSeq Acc Id: ENST00000402722   ⟹   ENSP00000386000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,530 - 27,323,081 (-)Ensembl
RefSeq Acc Id: ENST00000403262   ⟹   ENSP00000385671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,311,495 - 27,323,067 (-)Ensembl
RefSeq Acc Id: ENST00000405076   ⟹   ENSP00000385175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,707 - 27,323,102 (-)Ensembl
RefSeq Acc Id: ENST00000405983   ⟹   ENSP00000384586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,646 - 27,323,063 (-)Ensembl
RefSeq Acc Id: ENST00000415514   ⟹   ENSP00000388043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,904 - 27,323,063 (-)Ensembl
RefSeq Acc Id: ENST00000426513   ⟹   ENSP00000403824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,540 - 27,323,083 (-)Ensembl
RefSeq Acc Id: ENST00000428910   ⟹   ENSP00000405235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,311,935 - 27,323,072 (-)Ensembl
RefSeq Acc Id: ENST00000430991   ⟹   ENSP00000406441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,795 - 27,313,109 (-)Ensembl
RefSeq Acc Id: ENST00000475085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,312,147 - 27,312,986 (-)Ensembl
RefSeq Acc Id: ENST00000486898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,316,791 - 27,323,097 (-)Ensembl
RefSeq Acc Id: ENST00000494436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,321,959 - 27,323,077 (-)Ensembl
RefSeq Acc Id: ENST00000616446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,312,300 - 27,313,156 (-)Ensembl
RefSeq Acc Id: ENST00000616707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,311,073 - 27,313,387 (-)Ensembl
RefSeq Acc Id: ENST00000617583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,311,930 - 27,323,072 (-)Ensembl
RefSeq Acc Id: ENST00000620797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,492 - 27,312,453 (-)Ensembl
RefSeq Acc Id: ENST00000621183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,309,850 - 27,323,102 (-)Ensembl
RefSeq Acc Id: ENST00000621470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,312,214 - 27,323,097 (-)Ensembl
RefSeq Acc Id: ENST00000622003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,312,248 - 27,323,062 (-)Ensembl
RefSeq Acc Id: NM_002437   ⟹   NP_002428
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,309,492 - 27,323,097 (-)NCBI
GRCh37227,532,360 - 27,545,969 (-)ENTREZGENE
GRCh37227,532,360 - 27,545,969 (-)NCBI
Build 36227,385,864 - 27,399,473 (-)NCBI Archive
HuRef227,274,582 - 27,288,152 (-)ENTREZGENE
CHM1_1227,462,306 - 27,475,919 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264326   ⟹   XP_005264383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,309,492 - 27,323,068 (-)NCBI
GRCh37227,532,360 - 27,545,969 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712021   ⟹   XP_006712084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,309,492 - 27,323,097 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004150   ⟹   XP_016859639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,309,492 - 27,323,097 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004151   ⟹   XP_016859640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,309,492 - 27,322,525 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004152   ⟹   XP_016859641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,309,492 - 27,322,522 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452913   ⟹   XP_024308681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,309,492 - 27,323,060 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002428 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264383 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712084 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859639 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859640 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859641 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308681 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC24205 (Get FASTA)   NCBI Sequence Viewer  
  AAD14014 (Get FASTA)   NCBI Sequence Viewer  
  AAH01115 (Get FASTA)   NCBI Sequence Viewer  
  AAH16289 (Get FASTA)   NCBI Sequence Viewer  
  AAY24298 (Get FASTA)   NCBI Sequence Viewer  
  ADP91854 (Get FASTA)   NCBI Sequence Viewer  
  ADP91855 (Get FASTA)   NCBI Sequence Viewer  
  ADP91856 (Get FASTA)   NCBI Sequence Viewer  
  ADP91857 (Get FASTA)   NCBI Sequence Viewer  
  ADP91858 (Get FASTA)   NCBI Sequence Viewer  
  ADP91859 (Get FASTA)   NCBI Sequence Viewer  
  ADP91860 (Get FASTA)   NCBI Sequence Viewer  
  ADP91861 (Get FASTA)   NCBI Sequence Viewer  
  ADP91862 (Get FASTA)   NCBI Sequence Viewer  
  ADP91863 (Get FASTA)   NCBI Sequence Viewer  
  ADP91864 (Get FASTA)   NCBI Sequence Viewer  
  ADP91865 (Get FASTA)   NCBI Sequence Viewer  
  ADP91866 (Get FASTA)   NCBI Sequence Viewer  
  ADP91867 (Get FASTA)   NCBI Sequence Viewer  
  ADP91868 (Get FASTA)   NCBI Sequence Viewer  
  ADP91869 (Get FASTA)   NCBI Sequence Viewer  
  ADP91870 (Get FASTA)   NCBI Sequence Viewer  
  ADP91871 (Get FASTA)   NCBI Sequence Viewer  
  ADP91872 (Get FASTA)   NCBI Sequence Viewer  
  ADP91873 (Get FASTA)   NCBI Sequence Viewer  
  ADP91874 (Get FASTA)   NCBI Sequence Viewer  
  ADP91875 (Get FASTA)   NCBI Sequence Viewer  
  ADP91876 (Get FASTA)   NCBI Sequence Viewer  
  ADP91877 (Get FASTA)   NCBI Sequence Viewer  
  ADP91878 (Get FASTA)   NCBI Sequence Viewer  
  ADP91879 (Get FASTA)   NCBI Sequence Viewer  
  ADP91880 (Get FASTA)   NCBI Sequence Viewer  
  ADP91881 (Get FASTA)   NCBI Sequence Viewer  
  ADP91882 (Get FASTA)   NCBI Sequence Viewer  
  ADP91883 (Get FASTA)   NCBI Sequence Viewer  
  ADP91884 (Get FASTA)   NCBI Sequence Viewer  
  ADP91885 (Get FASTA)   NCBI Sequence Viewer  
  ADP91886 (Get FASTA)   NCBI Sequence Viewer  
  ADP91887 (Get FASTA)   NCBI Sequence Viewer  
  ADP91888 (Get FASTA)   NCBI Sequence Viewer  
  ADP91889 (Get FASTA)   NCBI Sequence Viewer  
  ADP91890 (Get FASTA)   NCBI Sequence Viewer  
  ADP91891 (Get FASTA)   NCBI Sequence Viewer  
  ADP91892 (Get FASTA)   NCBI Sequence Viewer  
  ADP91893 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33653 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33654 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33655 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33656 (Get FASTA)   NCBI Sequence Viewer  
  CAA54047 (Get FASTA)   NCBI Sequence Viewer  
  CAH33966 (Get FASTA)   NCBI Sequence Viewer  
  EAX00597 (Get FASTA)   NCBI Sequence Viewer  
  EAX00598 (Get FASTA)   NCBI Sequence Viewer  
  EAX00599 (Get FASTA)   NCBI Sequence Viewer  
  EAX00600 (Get FASTA)   NCBI Sequence Viewer  
  EAX00601 (Get FASTA)   NCBI Sequence Viewer  
  EAX00602 (Get FASTA)   NCBI Sequence Viewer  
  EAX00603 (Get FASTA)   NCBI Sequence Viewer  
  EAX00604 (Get FASTA)   NCBI Sequence Viewer  
  P39210 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002428   ⟸   NM_002437
- UniProtKB: P39210 (UniProtKB/Swiss-Prot),   A0A0S2Z3Z9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005264383   ⟸   XM_005264326
- Peptide Label: isoform X1
- UniProtKB: P39210 (UniProtKB/Swiss-Prot),   A0A0S2Z3Z9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712084   ⟸   XM_006712021
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016859639   ⟸   XM_017004150
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859640   ⟸   XM_017004151
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016859641   ⟸   XM_017004152
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024308681   ⟸   XM_024452913
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000382006   ⟸   ENST00000399052
RefSeq Acc Id: ENSP00000403824   ⟸   ENST00000426513
RefSeq Acc Id: ENSP00000405235   ⟸   ENST00000428910
RefSeq Acc Id: ENSP00000388043   ⟸   ENST00000415514
RefSeq Acc Id: ENSP00000383955   ⟸   ENST00000402310
RefSeq Acc Id: ENSP00000386000   ⟸   ENST00000402722
RefSeq Acc Id: ENSP00000385671   ⟸   ENST00000403262
RefSeq Acc Id: ENSP00000233545   ⟸   ENST00000233545
RefSeq Acc Id: ENSP00000385175   ⟸   ENST00000405076
RefSeq Acc Id: ENSP00000384586   ⟸   ENST00000405983
RefSeq Acc Id: ENSP00000406441   ⟸   ENST00000430991
RefSeq Acc Id: ENSP00000369383   ⟸   ENST00000380044
RefSeq Acc Id: ENSP00000349713   ⟸   ENST00000357186

Promoters
RGD ID:6859912
Promoter ID:EPDNEW_H3121
Type:initiation region
Name:MPV17_2
Description:MPV17, mitochondrial inner membrane protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3122  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,322,533 - 27,322,593EPDNEW
RGD ID:6859914
Promoter ID:EPDNEW_H3122
Type:initiation region
Name:MPV17_1
Description:MPV17, mitochondrial inner membrane protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3121  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,323,080 - 27,323,140EPDNEW
RGD ID:6797818
Promoter ID:HG_KWN:31940
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000325035,   OTTHUMT00000325040,   OTTHUMT00000325050,   OTTHUMT00000325051
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,388,786 - 27,389,492 (-)MPROMDB
RGD ID:6797820
Promoter ID:HG_KWN:31941
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000233545,   ENST00000399052,   ENST00000402310,   ENST00000402722,   ENST00000403262,   ENST00000405076,   ENST00000405983,   NM_002437,   OTTHUMT00000325037,   OTTHUMT00000325038,   OTTHUMT00000325041,   OTTHUMT00000325042,   OTTHUMT00000325043,   OTTHUMT00000325045,   OTTHUMT00000325046,   OTTHUMT00000325048,   OTTHUMT00000325049
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,398,826 - 27,399,537 (-)MPROMDB
RGD ID:6797819
Promoter ID:HG_KWN:31942
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC002RJT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,401,126 - 27,402,917 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
MPV17, 26-BP DEL, NT116 deletion Navajo neurohepatopathy [RCV000017546] Chr2:2p23-p21 pathogenic
NG_008075.1(MPV17):g.16680_18253delinsCCTG indel Navajo neurohepatopathy [RCV000017549] Chr2:27309311..27310884 [GRCh38]
Chr2:27532179..27533752 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.451C>T (p.Leu151Phe) single nucleotide variant Navajo neurohepatopathy [RCV001142393]|not provided [RCV000729203] Chr2:27311909 [GRCh38]
Chr2:27534777 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) single nucleotide variant Navajo neurohepatopathy [RCV000017543]|not provided [RCV000712314] Chr2:27313031 [GRCh38]
Chr2:27535898 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.498C>A (p.Asn166Lys) single nucleotide variant Navajo neurohepatopathy [RCV000017544] Chr2:27309945 [GRCh38]
Chr2:27532813 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) single nucleotide variant Navajo neurohepatopathy [RCV000017545]|not provided [RCV000264441] Chr2:27313032 [GRCh38]
Chr2:27535899 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) single nucleotide variant Navajo neurohepatopathy [RCV000017547] Chr2:27312510 [GRCh38]
Chr2:27535377 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) single nucleotide variant Navajo neurohepatopathy [RCV000017548] Chr2:27322448 [GRCh38]
Chr2:27545315 [GRCh37]
Chr2:2p23.3
pathogenic|uncertain significance
NM_002437.5(MPV17):c.122_147del (p.Arg41fs) deletion Navajo neurohepatopathy [RCV000031902] Chr2:27313033..27313058 [GRCh38]
Chr2:27535900..27535925 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.186+2T>C single nucleotide variant Navajo neurohepatopathy [RCV000031903]|not provided [RCV000195573] Chr2:27312992 [GRCh38]
Chr2:27535859 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) single nucleotide variant MPV17-related mitochondrial DNA maintenance defect [RCV000735226]|Navajo neurohepatopathy [RCV000031904]|not provided [RCV001385322] Chr2:27312753 [GRCh38]
Chr2:27535620 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del) deletion Navajo neurohepatopathy [RCV000031906] Chr2:27312717..27312725 [GRCh38]
Chr2:27535584..27535592 [GRCh37]
Chr2:2p23.3
pathogenic|uncertain significance
NM_002437.5(MPV17):c.262A>G (p.Lys88Glu) single nucleotide variant Navajo neurohepatopathy [RCV000031907] Chr2:27312697 [GRCh38]
Chr2:27535564 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) microsatellite Navajo neurohepatopathy [RCV000031908]|not provided [RCV000197566] Chr2:27312694..27312696 [GRCh38]
Chr2:27535561..27535563 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) microsatellite Navajo neurohepatopathy [RCV000031909]|not provided [RCV000597206] Chr2:27312686..27312688 [GRCh38]
Chr2:27535553..27535555 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|uncertain significance
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) single nucleotide variant Navajo neurohepatopathy [RCV000031910] Chr2:27312589 [GRCh38]
Chr2:27535456 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) single nucleotide variant Charcot-Marie-Tooth disease, axonal, type 2EE [RCV000768420]|MPV17-Related Disorders [RCV000312148]|Mitochondrial DNA depletion syndrome type 6 [RCV001250252]|Navajo neurohepatopathy [RCV000031911]|not provided [RCV000198122] Chr2:27312576 [GRCh38]
Chr2:27535443 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.485C>A (p.Ala162Asp) single nucleotide variant Navajo neurohepatopathy [RCV000031913] Chr2:27309958 [GRCh38]
Chr2:27532826 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.509C>T (p.Ser170Phe) single nucleotide variant Navajo neurohepatopathy [RCV000031914] Chr2:27309934 [GRCh38]
Chr2:27532802 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_002437.5(MPV17):c.70+5G>A single nucleotide variant Navajo neurohepatopathy [RCV000031915] Chr2:27322443 [GRCh38]
Chr2:27545310 [GRCh37]
Chr2:2p23.3
pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
NM_032546.3(TRIM54):c.1029G>A (p.Arg343=) single nucleotide variant Malignant melanoma [RCV000065525] Chr2:27306249 [GRCh38]
Chr2:27529117 [GRCh37]
Chr2:27382621 [NCBI36]
Chr2:2p23.3
not provided
NM_002437.5(MPV17):c.22dup (p.Gln8fs) duplication Navajo neurohepatopathy [RCV000031905] Chr2:27322495..27322496 [GRCh38]
Chr2:27545362..27545363 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.451dup (p.Leu151fs) duplication Navajo neurohepatopathy [RCV000031912]|not provided [RCV001390941] Chr2:27311908..27311909 [GRCh38]
Chr2:27534776..27534777 [GRCh37]
Chr2:2p23.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002437.5(MPV17):c.27G>T (p.Arg9=) single nucleotide variant Mitochondrial DNA depletion syndrome [RCV000363815]|Navajo neurohepatopathy [RCV000313755]|not provided [RCV000903706]|not specified [RCV000175725] Chr2:27322491 [GRCh38]
Chr2:27545358 [GRCh37]
Chr2:2p23.3
benign|uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2
pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_002437.5(MPV17):c.409-7C>T single nucleotide variant not provided [RCV000179848] Chr2:27311958 [GRCh38]
Chr2:27534826 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.370C>T (p.Gln124Ter) single nucleotide variant not provided [RCV000196530] Chr2:27312499 [GRCh38]
Chr2:27535366 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.-5-18C>G single nucleotide variant not specified [RCV000197801] Chr2:27322540 [GRCh38]
Chr2:27545407 [GRCh37]
Chr2:2p23.3
pathogenic|benign
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) single nucleotide variant Navajo neurohepatopathy [RCV000855709]|not provided [RCV000734836] Chr2:27313059 [GRCh38]
Chr2:27535926 [GRCh37]
Chr2:2p23.3
likely pathogenic|uncertain significance
NM_002437.5(MPV17):c.135del (p.Glu45fs) deletion Navajo neurohepatopathy [RCV000660561]|not provided [RCV000196385] Chr2:27313045 [GRCh38]
Chr2:27535912 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_002437.5(MPV17):c.20A>G (p.Tyr7Cys) single nucleotide variant not provided [RCV000199973] Chr2:27322498 [GRCh38]
Chr2:27545365 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.196G>T (p.Val66Leu) single nucleotide variant not provided [RCV000200118] Chr2:27312763 [GRCh38]
Chr2:27535630 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.-6+8G>A single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV000310279]|Navajo neurohepatopathy [RCV000269210] Chr2:27323044 [GRCh38]
Chr2:27545911 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.*347C>T single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV000325548]|Navajo neurohepatopathy [RCV000270503] Chr2:27309565 [GRCh38]
Chr2:27532433 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.*194G>A single nucleotide variant Mitochondrial DNA depletion syndrome [RCV000384728]|Navajo neurohepatopathy [RCV000271826] Chr2:27309718 [GRCh38]
Chr2:27532586 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.461G>C (p.Arg154Thr) single nucleotide variant not provided [RCV000278294] Chr2:27311899 [GRCh38]
Chr2:27534767 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.409-1G>C single nucleotide variant not provided [RCV000337973] Chr2:27311952 [GRCh38]
Chr2:27534820 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.*413A>C single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV000368819]|Navajo neurohepatopathy [RCV000274282] Chr2:27309499 [GRCh38]
Chr2:27532367 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) single nucleotide variant Navajo neurohepatopathy [RCV001271668]|not provided [RCV000352417] Chr2:27322457 [GRCh38]
Chr2:27545324 [GRCh37]
Chr2:2p23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) single nucleotide variant Navajo neurohepatopathy [RCV001142397]|not provided [RCV000766772]|not specified [RCV000319816] Chr2:27312720 [GRCh38]
Chr2:27535587 [GRCh37]
Chr2:2p23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002437.5(MPV17):c.-11G>C single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV000364765]|Navajo neurohepatopathy [RCV000265482] Chr2:27323057 [GRCh38]
Chr2:27545924 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.*34G>A single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV000372861]|Navajo neurohepatopathy [RCV000278409] Chr2:27309878 [GRCh38]
Chr2:27532746 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.280-1dup duplication Navajo neurohepatopathy [RCV000265576]|not provided [RCV000486235] Chr2:27312584..27312585 [GRCh38]
Chr2:27535451..27535452 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.74C>A (p.Ser25Tyr) single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV001278708] Chr2:27313106 [GRCh38]
Chr2:27535973 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_002437.5(MPV17):c.*360G>C single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV000315410]|Navajo neurohepatopathy [RCV000369855] Chr2:27309552 [GRCh38]
Chr2:27532420 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.71-10C>T single nucleotide variant not provided [RCV000597011] Chr2:27313119 [GRCh38]
Chr2:27535986 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.164T>C (p.Val55Ala) single nucleotide variant Mitochondrial DNA depletion syndrome [RCV000405655]|Navajo neurohepatopathy [RCV000348274]|not provided [RCV001499817] Chr2:27313016 [GRCh38]
Chr2:27535883 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_002437.5(MPV17):c.*130G>T single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV000322233]|Navajo neurohepatopathy [RCV000376781] Chr2:27309782 [GRCh38]
Chr2:27532650 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV000403672]|Navajo neurohepatopathy [RCV000338177]|not provided [RCV000730532] Chr2:27312496 [GRCh38]
Chr2:27535363 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.*80C>T single nucleotide variant Mitochondrial DNA depletion syndrome [RCV000287073]|Navajo neurohepatopathy [RCV000341589] Chr2:27309832 [GRCh38]
Chr2:27532700 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.523C>T (p.Arg175Trp) single nucleotide variant not provided [RCV000730349] Chr2:27309920 [GRCh38]
Chr2:27532788 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.279+9_279+11del deletion not provided [RCV000730367] Chr2:27312669..27312671 [GRCh38]
Chr2:27535536..27535538 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.156G>A (p.Leu52=) single nucleotide variant Navajo neurohepatopathy [RCV001276352]|not provided [RCV000730371] Chr2:27313024 [GRCh38]
Chr2:27535891 [GRCh37]
Chr2:2p23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002437.5(MPV17):c.376-9T>G single nucleotide variant Charcot-Marie-Tooth disease, axonal, type 2EE [RCV000768422]|MPV17-related mitochondrial DNA maintenance defect [RCV000735227]|not provided [RCV000728355] Chr2:27312255 [GRCh38]
Chr2:27535123 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|uncertain significance
NM_002437.5(MPV17):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV000595516] Chr2:27322487 [GRCh38]
Chr2:27545354 [GRCh37]
Chr2:2p23.3
conflicting interpretations of pathogenicity|uncertain significance
NM_002437.5(MPV17):c.247G>C (p.Val83Leu) single nucleotide variant not provided [RCV000731402] Chr2:27312712 [GRCh38]
Chr2:27535579 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.469G>A (p.Val157Ile) single nucleotide variant not provided [RCV000734500] Chr2:27309974 [GRCh38]
Chr2:27532842 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.461+2T>C single nucleotide variant not provided [RCV000734726] Chr2:27311897 [GRCh38]
Chr2:27534765 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.70+8T>G single nucleotide variant not provided [RCV000729763] Chr2:27322440 [GRCh38]
Chr2:27545307 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.450C>T (p.Pro150=) single nucleotide variant not provided [RCV000732863] Chr2:27311910 [GRCh38]
Chr2:27534778 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.283G>A (p.Gly95Ser) single nucleotide variant not provided [RCV000732870] Chr2:27312586 [GRCh38]
Chr2:27535453 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.167C>A (p.Ser56Tyr) single nucleotide variant not provided [RCV000595118] Chr2:27313013 [GRCh38]
Chr2:27535880 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.461+17C>A single nucleotide variant not specified [RCV000428064] Chr2:27311882 [GRCh38]
Chr2:27534750 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala) single nucleotide variant not provided [RCV000419357] Chr2:27312684 [GRCh38]
Chr2:27535551 [GRCh37]
Chr2:2p23.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002437.5(MPV17):c.*11C>G single nucleotide variant not specified [RCV000435617] Chr2:27309901 [GRCh38]
Chr2:27532769 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.*12T>G single nucleotide variant Navajo neurohepatopathy [RCV001142392]|not specified [RCV000419378] Chr2:27309900 [GRCh38]
Chr2:27532768 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_002437.5(MPV17):c.444G>A (p.Leu148=) single nucleotide variant Navajo neurohepatopathy [RCV001142394]|not provided [RCV000756345]|not specified [RCV000429160] Chr2:27311916 [GRCh38]
Chr2:27534784 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_002437.5(MPV17):c.294G>A (p.Pro98=) single nucleotide variant not provided [RCV001429696]|not specified [RCV000422565] Chr2:27312575 [GRCh38]
Chr2:27535442 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) single nucleotide variant Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV001249367]|Navajo neurohepatopathy [RCV000855706]|not provided [RCV000439109] Chr2:27312768 [GRCh38]
Chr2:27535635 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|not provided
NM_002437.5(MPV17):c.106C>T (p.Gln36Ter) single nucleotide variant Navajo neurohepatopathy [RCV000416870] Chr2:27313074 [GRCh38]
Chr2:27535941 [GRCh37]
Chr2:2p23.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) single nucleotide variant Navajo neurohepatopathy [RCV000625516]|not provided [RCV000485587] Chr2:27311899 [GRCh38]
Chr2:27534767 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.408+1G>A single nucleotide variant Navajo neurohepatopathy [RCV000763082]|not provided [RCV000479349] Chr2:27312213 [GRCh38]
Chr2:27535081 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.375G>A (p.Arg125=) single nucleotide variant Navajo neurohepatopathy [RCV000761497]|not provided [RCV000480121] Chr2:27312494 [GRCh38]
Chr2:27535361 [GRCh37]
Chr2:2p23.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_002437.5(MPV17):c.275A>G (p.Asp92Gly) single nucleotide variant Navajo neurohepatopathy [RCV000625514] Chr2:27312684 [GRCh38]
Chr2:27535551 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.293del (p.Pro98fs) deletion Navajo neurohepatopathy [RCV000625518] Chr2:27312576 [GRCh38]
Chr2:27535443 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.376-1G>A single nucleotide variant Navajo neurohepatopathy [RCV000625520] Chr2:27312247 [GRCh38]
Chr2:27535115 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.4(MPV17):c.71-2_79delins4 indel Navajo neurohepatopathy [RCV000625521] Chr2:27313101..27313111 [GRCh38]
Chr2:27535968..27535978 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.-12C>T single nucleotide variant not specified [RCV000606835] Chr2:27323058 [GRCh38]
Chr2:27545925 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.297T>A (p.Cys99Ter) single nucleotide variant Navajo neurohepatopathy [RCV000625517] Chr2:27312572 [GRCh38]
Chr2:27535439 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.376-2A>C single nucleotide variant Navajo neurohepatopathy [RCV000625519] Chr2:27312248 [GRCh38]
Chr2:27535116 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.284G>A (p.Gly95Asp) single nucleotide variant Navajo neurohepatopathy [RCV000625515] Chr2:27312585 [GRCh38]
Chr2:27535452 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
NM_002437.5(MPV17):c.462-267T>G single nucleotide variant not provided [RCV001547977] Chr2:27310248 [GRCh38]
Chr2:27533116 [GRCh37]
Chr2:2p23.3
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) single nucleotide variant Navajo neurohepatopathy [RCV000855707] Chr2:27313073 [GRCh38]
Chr2:27535940 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.403T>A (p.Tyr135Asn) single nucleotide variant Navajo neurohepatopathy [RCV000790392] Chr2:27312219 [GRCh38]
Chr2:27535087 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.390C>G (p.Ala130=) single nucleotide variant Navajo neurohepatopathy [RCV001142395]|not provided [RCV000877399] Chr2:27312232 [GRCh38]
Chr2:27535100 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_002437.5(MPV17):c.414dup (p.Pro139fs) duplication Navajo neurohepatopathy [RCV000790422] Chr2:27311945..27311946 [GRCh38]
Chr2:27534813..27534814 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) single nucleotide variant Navajo neurohepatopathy [RCV000855704] Chr2:27312681 [GRCh38]
Chr2:27535548 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.62T>G (p.Leu21Arg) single nucleotide variant Navajo neurohepatopathy [RCV000855705] Chr2:27322456 [GRCh38]
Chr2:27545323 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.130C>T (p.Gln44Ter) single nucleotide variant Navajo neurohepatopathy [RCV000855708] Chr2:27313050 [GRCh38]
Chr2:27535917 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.249G>A (p.Val83=) single nucleotide variant not provided [RCV000925863] Chr2:27312710 [GRCh38]
Chr2:27535577 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.409-10T>G single nucleotide variant not provided [RCV000928903] Chr2:27311961 [GRCh38]
Chr2:27534829 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) single nucleotide variant Charcot-Marie-Tooth disease, axonal, type 2EE [RCV000768421]|Mitochondrial DNA depletion syndrome, hepatocerebral form [RCV001249366]|not provided [RCV000792530] Chr2:27313058 [GRCh38]
Chr2:27535925 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|not provided
NM_002437.5(MPV17):c.67G>C (p.Ala23Pro) single nucleotide variant Navajo neurohepatopathy [RCV000855703] Chr2:27322451 [GRCh38]
Chr2:27545318 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.197T>A (p.Val66Glu) single nucleotide variant Navajo neurohepatopathy [RCV000855710] Chr2:27312762 [GRCh38]
Chr2:27535629 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter) single nucleotide variant Navajo neurohepatopathy [RCV000855711] Chr2:27312214 [GRCh38]
Chr2:27535082 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.-5-36C>T single nucleotide variant not provided [RCV000836252] Chr2:27322558 [GRCh38]
Chr2:27545425 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.447C>A (p.Val149=) single nucleotide variant not provided [RCV000942239] Chr2:27311913 [GRCh38]
Chr2:27534781 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.22C>T (p.Gln8Ter) single nucleotide variant not provided [RCV001239130] Chr2:27322496 [GRCh38]
Chr2:27545363 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.*229T>C single nucleotide variant Navajo neurohepatopathy [RCV001140544] Chr2:27309683 [GRCh38]
Chr2:27532551 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.*54C>T single nucleotide variant Navajo neurohepatopathy [RCV001140547] Chr2:27309858 [GRCh38]
Chr2:27532726 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.461+40C>T single nucleotide variant not provided [RCV001560933] Chr2:27311859 [GRCh38]
Chr2:27534727 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.-5-35G>T single nucleotide variant not provided [RCV001564134] Chr2:27322557 [GRCh38]
Chr2:27545424 [GRCh37]
Chr2:2p23.3
likely benign
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21
likely pathogenic
NM_002437.5(MPV17):c.279+1G>T single nucleotide variant Navajo neurohepatopathy [RCV000853234] Chr2:27312679 [GRCh38]
Chr2:27535546 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.376-6C>T single nucleotide variant not provided [RCV000932758] Chr2:27312252 [GRCh38]
Chr2:27535120 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.301C>T (p.Leu101=) single nucleotide variant not provided [RCV000888908] Chr2:27312568 [GRCh38]
Chr2:27535435 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.*367G>A single nucleotide variant Navajo neurohepatopathy [RCV001139775] Chr2:27309545 [GRCh38]
Chr2:27532413 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.291C>T (p.Ala97=) single nucleotide variant Navajo neurohepatopathy [RCV001142396] Chr2:27312578 [GRCh38]
Chr2:27535445 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.185del (p.Val62fs) deletion not provided [RCV000997099] Chr2:27312995 [GRCh38]
Chr2:27535862 [GRCh37]
Chr2:2p23.3
likely pathogenic
GRCh37/hg19 2p23.3(chr2:27519013-27610482)x1 copy number loss not provided [RCV001005237] Chr2:27519013..27610482 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.*188A>G single nucleotide variant Navajo neurohepatopathy [RCV001140545] Chr2:27309724 [GRCh38]
Chr2:27532592 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.*72A>C single nucleotide variant Navajo neurohepatopathy [RCV001140546] Chr2:27309840 [GRCh38]
Chr2:27532708 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.462-21T>C single nucleotide variant Charcot-Marie-Tooth disease, axonal, type 2EE [RCV001543224]|Navajo neurohepatopathy [RCV001543225] Chr2:27310002 [GRCh38]
Chr2:27532870 [GRCh37]
Chr2:2p23.3
benign
NM_002437.5(MPV17):c.179del (p.Gly60fs) deletion not provided [RCV001208598] Chr2:27313001 [GRCh38]
Chr2:27535868 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.223C>G (p.Arg75Gly) single nucleotide variant Navajo neurohepatopathy [RCV001137648] Chr2:27312736 [GRCh38]
Chr2:27535603 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.155_167del (p.Leu52fs) deletion not provided [RCV001044073] Chr2:27313013..27313025 [GRCh38]
Chr2:27535880..27535892 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.*366C>T single nucleotide variant Navajo neurohepatopathy [RCV001139776] Chr2:27309546 [GRCh38]
Chr2:27532414 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_002437.5(MPV17):c.*351C>T single nucleotide variant Navajo neurohepatopathy [RCV001139777] Chr2:27309561 [GRCh38]
Chr2:27532429 [GRCh37]
Chr2:2p23.3
uncertain significance
NC_000002.11:g.(?_27534757)_(27545394_?)del deletion not provided [RCV001033244] Chr2:27534757..27545394 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu) indel Charcot-Marie-Tooth disease, axonal, type 2EE [RCV001263154] Chr2:27312694..27312696 [GRCh38]
Chr2:27535561..27535563 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.277C>T (p.Gln93Ter) single nucleotide variant Navajo neurohepatopathy [RCV001268962] Chr2:27312682 [GRCh38]
Chr2:27535549 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5:c.284dupG duplication Navajo neurohepatopathy [RCV001276351]   pathogenic
NM_002437.5(MPV17):c.183T>C (p.Phe61=) single nucleotide variant not provided [RCV001395563] Chr2:27312997 [GRCh38]
Chr2:27535864 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.462-9G>C single nucleotide variant not provided [RCV001404371] Chr2:27309990 [GRCh38]
Chr2:27532858 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.180C>A (p.Gly60=) single nucleotide variant not provided [RCV001514675] Chr2:27313000 [GRCh38]
Chr2:27535867 [GRCh37]
Chr2:2p23.3
benign
NM_002437.5(MPV17):c.9C>G (p.Leu3=) single nucleotide variant not provided [RCV001439719] Chr2:27322509 [GRCh38]
Chr2:27545376 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.78G>A (p.Leu26=) single nucleotide variant not provided [RCV001398028] Chr2:27313102 [GRCh38]
Chr2:27535969 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.139del (p.Gln47fs) deletion not provided [RCV001384164] Chr2:27313041 [GRCh38]
Chr2:27535908 [GRCh37]
Chr2:2p23.3
pathogenic
NM_002437.5(MPV17):c.45G>A (p.Pro15=) single nucleotide variant not provided [RCV001428734] Chr2:27322473 [GRCh38]
Chr2:27545340 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.378T>C (p.Asp126=) single nucleotide variant not provided [RCV001400846] Chr2:27312244 [GRCh38]
Chr2:27535112 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.396C>T (p.Ile132=) single nucleotide variant not provided [RCV001437546] Chr2:27312226 [GRCh38]
Chr2:27535094 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) single nucleotide variant not provided [RCV001376805] Chr2:27311932 [GRCh38]
Chr2:27534800 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.71-2A>G single nucleotide variant not provided [RCV001379417] Chr2:27313111 [GRCh38]
Chr2:27535978 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_002437.5(MPV17):c.261G>A (p.Lys87=) single nucleotide variant not provided [RCV001442874] Chr2:27312698 [GRCh38]
Chr2:27535565 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.381T>C (p.Tyr127=) single nucleotide variant not provided [RCV001409188] Chr2:27312241 [GRCh38]
Chr2:27535109 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.225G>C (p.Arg75=) single nucleotide variant not provided [RCV001466884] Chr2:27312734 [GRCh38]
Chr2:27535601 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.264G>A (p.Lys88=) single nucleotide variant not provided [RCV001504709] Chr2:27312695 [GRCh38]
Chr2:27535562 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.393T>C (p.Leu131=) single nucleotide variant not provided [RCV001470416] Chr2:27312229 [GRCh38]
Chr2:27535097 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.408+9T>C single nucleotide variant not provided [RCV001470464] Chr2:27312205 [GRCh38]
Chr2:27535073 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.321G>T (p.Leu107=) single nucleotide variant not provided [RCV001468705] Chr2:27312548 [GRCh38]
Chr2:27535415 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.523C>A (p.Arg175=) single nucleotide variant not provided [RCV001500398] Chr2:27309920 [GRCh38]
Chr2:27532788 [GRCh37]
Chr2:2p23.3
likely benign
NM_002437.5(MPV17):c.252T>C (p.Asp84=) single nucleotide variant not provided [RCV001417286] Chr2:27312707 [GRCh38]
Chr2:27535574 [GRCh37]
Chr2:2p23.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7224 AgrOrtholog
COSMIC MPV17 COSMIC
Ensembl Genes ENSG00000115204 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000233545 UniProtKB/Swiss-Prot
  ENSP00000349713 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000369383 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382006 UniProtKB/TrEMBL
  ENSP00000383955 UniProtKB/TrEMBL
  ENSP00000384586 UniProtKB/TrEMBL
  ENSP00000385175 UniProtKB/TrEMBL
  ENSP00000385671 UniProtKB/TrEMBL
  ENSP00000386000 UniProtKB/TrEMBL
  ENSP00000388043 UniProtKB/TrEMBL
  ENSP00000403824 UniProtKB/TrEMBL
  ENSP00000405235 UniProtKB/TrEMBL
  ENSP00000406441 UniProtKB/TrEMBL
Ensembl Transcript ENST00000233545 UniProtKB/Swiss-Prot
  ENST00000357186 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000380044 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399052 UniProtKB/TrEMBL
  ENST00000402310 UniProtKB/TrEMBL
  ENST00000402722 UniProtKB/TrEMBL
  ENST00000403262 UniProtKB/TrEMBL
  ENST00000405076 UniProtKB/TrEMBL
  ENST00000405983 UniProtKB/TrEMBL
  ENST00000415514 UniProtKB/TrEMBL
  ENST00000426513 UniProtKB/TrEMBL
  ENST00000428910 UniProtKB/TrEMBL
  ENST00000430991 UniProtKB/TrEMBL
GTEx ENSG00000115204 GTEx
HGNC ID HGNC:7224 ENTREZGENE
Human Proteome Map MPV17 Human Proteome Map
InterPro Mpv17_PMP22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4358 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4358 ENTREZGENE
OMIM 137960 OMIM
  256810 OMIM
  618400 OMIM
PANTHER PTHR11266 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mpv17_PMP22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30929 PharmGKB
UniProt A0A0S2Z3Z9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z466_HUMAN UniProtKB/TrEMBL
  A0A0S2Z469_HUMAN UniProtKB/TrEMBL
  A8MPV4_HUMAN UniProtKB/TrEMBL
  A8MTD3_HUMAN UniProtKB/TrEMBL
  B5MC10_HUMAN UniProtKB/TrEMBL
  B5MC53_HUMAN UniProtKB/TrEMBL
  B5MCF8_HUMAN UniProtKB/TrEMBL
  C9J473_HUMAN UniProtKB/TrEMBL
  D6W556_HUMAN UniProtKB/TrEMBL
  E7EX18_HUMAN UniProtKB/TrEMBL
  F8WEL3_HUMAN UniProtKB/TrEMBL
  G5E9F5_HUMAN UniProtKB/TrEMBL
  H0Y6M5_HUMAN UniProtKB/TrEMBL
  MPV17_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UPC7_HUMAN UniProtKB/TrEMBL
UniProt Secondary D6W555 UniProtKB/Swiss-Prot
  Q53SY2 UniProtKB/Swiss-Prot
  Q96B08 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-21 MPV17  mitochondrial inner membrane protein MPV17  MPV17  MPV17, mitochondrial inner membrane protein  Symbol and/or name change 5135510 APPROVED
2018-08-21 MPV17  mitochondrial inner membrane protein MPV17  MPV17  MPV17, mitochondrial inner membrane protein  Symbol and/or name change 5135510 APPROVED
2016-03-21 MPV17  MPV17, mitochondrial inner membrane protein  MPV17  MpV17 mitochondrial inner membrane protein  Symbol and/or name change 5135510 APPROVED
2016-03-21 MPV17  MPV17, mitochondrial inner membrane protein  MPV17  MpV17 mitochondrial inner membrane protein  Symbol and/or name change 5135510 APPROVED